Canonical Allele Identifier: CA2762546

Gene: TMEM44

Linked Data

• ClinVar Variation Id: 2343392
• ClinVar RCV Id: RCV004181538
• dbSNP Id: rs369571041
• ExAC: 3:194325120 C / G
• gnomAD v2: 3-194325120-C-G
• gnomAD v3: 3-194604391-C-G
• gnomAD v4: 3-194604391-C-G
• MyVariant Identifiers: chr3:g.194325120C>G (hg19) ; chr3:g.194604391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604391C>G , CM000665.2:g.194604391C>G	GRCh38
NC_000003.11:g.194325120C>G , CM000665.1:g.194325120C>G	GRCh37
NC_000003.10:g.195806409C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1072G>C MANE Select	ENSP00000333355.6:p.Ala358Pro
ENST00000347147.8:c.1072G>C	ENSP00000333355.6:p.Ala358Pro
ENST00000381975.7:c.1068G>C	ENSP00000371402.3:p.Met356Ile
ENST00000392432.6:c.1213G>C	ENSP00000376227.2:p.Ala405Pro
ENST00000419280.5:c.*368G>C	ENSP00000414077.1:n.*368G>C
ENST00000429560.1:c.264G>C	ENSP00000403053.1:p.Met88Ile
ENST00000432352.5:c.346G>C	ENSP00000409963.1:p.Ala116Pro
ENST00000452358.5:c.571G>C	ENSP00000414333.1:p.Ala191Pro
ENST00000467284.1:n.118G>C
ENST00000473092.5:c.1072G>C	ENSP00000418674.1:p.Ala358Pro
ENST00000477651.5:n.836G>C
NM_001011655.2:c.1072G>C	NP_001011655.1:p.Ala358Pro
NM_001166305.1:c.1213G>C	NP_001159777.1:p.Ala405Pro
NM_001166306.1:c.1068G>C	NP_001159778.1:p.Met356Ile
NM_138399.4:c.1072G>C	NP_612408.3:p.Ala358Pro
XM_005269371.3:c.1072G>C	XP_005269428.1:p.Ala358Pro
XM_011513318.1:c.1222G>C	XP_011511620.1:p.Ala408Pro
XM_011513319.1:c.1159G>C	XP_011511621.1:p.Ala387Pro
XM_011513320.1:c.1270G>C	XP_011511622.1:p.Ala424Pro
XM_011513321.1:c.1138G>C	XP_011511623.1:p.Ala380Pro
XM_011513322.1:c.1129G>C	XP_011511624.1:p.Ala377Pro
XM_011513323.1:c.967G>C	XP_011511625.1:p.Ala323Pro
XM_005269371.4:c.1072G>C	XP_005269428.1:p.Ala358Pro
XM_011513318.2:c.1222G>C	XP_011511620.1:p.Ala408Pro
XM_011513319.2:c.1159G>C	XP_011511621.1:p.Ala387Pro
XM_011513320.2:c.1270G>C	XP_011511622.1:p.Ala424Pro
XM_011513321.2:c.1138G>C	XP_011511623.1:p.Ala380Pro
XM_011513322.2:c.1129G>C	XP_011511624.1:p.Ala377Pro
XM_017007517.1:c.1081G>C	XP_016863006.1:p.Ala361Pro
XM_017007518.1:c.1081G>C	XP_016863007.1:p.Ala361Pro
NM_001011655.3:c.1072G>C MANE Select	NP_001011655.1:p.Ala358Pro
NM_001166305.2:c.1213G>C	NP_001159777.1:p.Ala405Pro
NM_001166306.2:c.1068G>C	NP_001159778.1:p.Met356Ile
NM_138399.5:c.1072G>C	NP_612408.3:p.Ala358Pro